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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 14251 - 14275 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0110088
  • asphyxiating thoracic dystrophy 4
  • Aliases:
    • ATD4
    • SRTD4
    • short-rib thoracic dysplasia 4 with or without polydactyly
Mus musculus (house mouse)
DOID:0111119
  • nephronophthisis 12
  • Aliases:
    • NPHP12
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:0111651
  • ectodermal dysplasia 15
  • Aliases:
    • ECTD15
    • ectodermal dysplasia 15, hypohidrotic/hair type
Mus musculus (house mouse)
DOID:11702
  • dysgammaglobulinemia
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:0110360
  • retinitis pigmentosa 39
  • Aliases:
    • RP39
Homo sapiens (human)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Mus musculus (house mouse)
DOID:13711
  • dental fluorosis
  • Aliases:
    • Intrinsic enamel discolouration of fluorosis
    • Mottled teeth
    • Mottling of enamel
Mus musculus (house mouse)
DOID:0111438
  • optic atrophy 5
  • Aliases:
    • OPA5
Mus musculus (house mouse)
DOID:0110828
  • Usher syndrome type 3
  • Aliases:
    • USH3
Homo sapiens (human)
DOID:0110373
  • retinitis pigmentosa 61
  • Aliases:
    • RP61
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
DOID:0060194
  • amyotrophic lateral sclerosis type 2
  • Aliases:
    • ALS2
    • amyotrophic lateral sclerosis 2
    • amyotrophic lateral sclerosis 2, juvenile
Mus musculus (house mouse)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024